A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284327



Internal ID22121713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:626857..627014hg38UCSC Ensembl
chr18:626857..627014hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224836
Supporting Variants
SamplesHG00512
Known GenesCLUL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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